ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.2050T>A (p.Leu684Ile) (rs190698163)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175280 SCV000226746 benign not specified 2015-05-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000175280 SCV000246898 uncertain significance not specified 2014-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000175280 SCV000570968 uncertain significance not specified 2017-02-27 criteria provided, single submitter clinical testing The L684I variant in the CC2D2A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. While not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports L684I was observed in 17/3924 (0.4%) alleles from individuals of African American background, indicating it may be a rare variant in this population. The L684I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties, and occurs at a position where amino acids with similar properties to Leucine are tolerated across species. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret L684I as a variant of uncertain significance.
Invitae RCV000863197 SCV001003816 likely benign Joubert syndrome; Meckel-Gruber syndrome 2019-12-31 criteria provided, single submitter clinical testing

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